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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Real-time reverse transcription-polymerase chain reaction, or Real-time RT-PCR, is an analytical tool used to determine the expression level of target genes. The method involves converting mRNA to complementary DNA with the help of an enzyme known as reverse transcriptase, followed by the PCR amplification of the cDNA. These two processes can be performed simultaneously in a single tube or separately as a two-step reaction.
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Related Experiment Video

Updated: Nov 15, 2025

Serum and Plasma Copy Number Detection Using Real-time PCR
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Analysis of Copy Number Variation in Urine: c-Myc Evaluation Using a Real-Time PCR Approach.

Valentina Casadio1, Filippo Martignano2,3, Roberta Gunelli4

  • 1Biosciences Laboratory, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, Meldola, Italy.

Methods in Molecular Biology (Clifton, N.J.)
|March 2, 2021
PubMed
Summary
This summary is machine-generated.

Urine cell-free DNA can detect c-Myc gene copy number variations in prostate cancer patients. This study presents a feasible protocol for analyzing these variations in urine, offering a potential noninvasive biomarker for urological cancers.

Keywords:
Copy numberProstate cancerUrinec-Myc

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Area of Science:

  • Biomarkers
  • Genetics
  • Urology

Background:

  • Urine cell-free DNA (cfDNA) is a promising noninvasive source for disease biomarkers, particularly for urological cancers.
  • The c-Myc gene, frequently altered in various cancers, is hypothesized to be a relevant target in prostate cancer.

Purpose of the Study:

  • To investigate the feasibility of analyzing c-Myc copy number variation (CNV) in urine cfDNA.
  • To establish a general protocol for gene CNV analysis in the urine cfDNA fraction for potential application in prostate cancer detection.

Main Methods:

  • Analysis of c-Myc gene copy number variation.
  • Utilizing urine cell-free DNA as the biological sample.
  • Development of a general protocol for gene CNV analysis in urine cfDNA.

Main Results:

  • Demonstrated the feasibility of detecting c-Myc CNV in urine cfDNA from a small series of prostate cancer patients.
  • Successfully developed a general protocol for analyzing gene CNV in the urine cfDNA fraction.

Conclusions:

  • Urine cfDNA is a viable source for detecting genetic aberrations like c-Myc CNV.
  • The developed protocol offers a potential noninvasive method for biomarker discovery in urological cancers, specifically prostate cancer.